A rare mutation in MYH7 gene occurs with overlapping phenotype

Ruggiero, Lucia; Gibertini, Sara; Stefano, Francesco De; Manganelli, Fiore; Iodice, Rosa; Vitale, Floriana; Zanotti, Simona; Galderisi, Maurizio; Mora, Marina; Santoro, Lucio

doi:10.1016/j.bbrc.2014.12.098

Cited by 16 publications

(13 citation statements)

References 12 publications

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“…In the affected members of family 2 (case 5-6) and in patients 13 and 15, we identified already described changes to Proline [ 16 , 17 ]. A different missense variant (c.5401G > A/p.Glu1801Lys) segregating with the disease was identified in members of Family 3, as reported [ 7 ].…”

Section: Resultsmentioning

confidence: 86%

“…Family 3 has previously been described elsewhere by same authors [ 7 ]. Briefly, this is a three-generation family with four affected men and a frequent cardiac involvement and mild-to-moderate weakness in distal upper and lower limbs which worsened with age.…”

Section: Resultsmentioning

confidence: 99%

“…This distinction is no longer pertinent as several cases with skeletal myopathies and mutations in the globular head have been reported [ 24 ], usually presenting associated cardiac involvement [ 18 , 25 ]. On the other hand, several reports of cardiomyopathy and mutations in the tail COOH domain of the protein have also been described [ 7 , 9 , 23 ]. In our cohort, cardiomyopathy occurred in seven cases and uniquely associated with tail domain mutations.…”

Section: Discussionmentioning

confidence: 99%

“…Skeletal myopathies due to MYH7 mutations were initially classified in two main subgroups according to clinical and pathological findings: myosin storage myopathy (MSM, MIM 608358) and Laing distal myopathy (LDM, MIM 160500). Additional phenotypes have been reported over the years, including a scapulo-peroneal or limb-girdle muscle form with or without morphological features of myosin storage [ 3 ], multi-minicore disease with variable cardiac involvement [ 4 , 5 ] and families with morphological features suggestive of congenital fiber type disproportion [ 6 , 7 ]. These disorders are either due to de novo mutations or inherited in a dominant fashion although cases with autosomal recessive inheritance have seldom been reported [ 8 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

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MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

Fiorillo

Astrea

Savarese

et al. 2016

Orphanet J Rare Dis

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BackgroundMyosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of hypertrophic cardiomyopathy whereas mutation in the distal regions have been associated with a range of skeletal myopathies with or without cardiac involvement, including Laing distal myopathy and Myosin storage myopathy. Recently the spectrum of clinical phenotypes associated with mutations in MYH7 has increased, blurring this scheme and adding further phenotypes to the list. A broader disease spectrum could lead to misdiagnosis of different congenital myopathies, neurogenic atrophy and other neuromuscular conditions.ResultsAs a result of a multicenter Italian study we collected clinical, histopathological and imaging data from a population of 21 cases from 15 families, carrying reported or novel mutations in MYH7. Patients displayed a variable phenotype including atypical pictures, as dropped head and bent spine, which cannot be classified in previously described groups. Half of the patients showed congenital or early infantile weakness with predominant distal weakness. Conversely, patients with later onset present prevalent proximal weakness. Seven patients were also affected by cardiomyopathy mostly in the form of non-compacted left ventricle. Muscle biopsy was consistent with minicores myopathy in numerous cases. Muscle MRI was meaningful in delineating a shared pattern of selective involvement of tibialis anterior muscles, with relative sparing of quadriceps.ConclusionThis work adds to the genotype-phenotype correlation of MYH7-relatedmyopathies confirming the complexity of the disorder.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-016-0476-1) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 86%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

Fiorillo

Astrea

Savarese

et al. 2016

Orphanet J Rare Dis

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“…This distinction is no longer pertinent as several cases with skeletal myopathies and mutations in the globular head have been reported [24], usually presenting LGMD limb girdle muscular dystrophy; FTD fibre type disproportion associated cardiac involvement [18,25]. On the other hand, several reports of cardiomyopathy and mutations in the tail COOH domain of the protein have also been described [7,9,23]. In our cohort, cardiomyopathy occurred in seven cases and uniquely associated with tail domain mutations.…”

Section: Myh7 Cardiomyopathy Is Common In Male and Can Be Also Due Tomentioning

confidence: 71%

MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients

Savarese

Astrea

Cassandrini

et al. 2015

Neuromuscular Disorders

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Background: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of hypertrophic cardiomyopathy whereas mutation in the distal regions have been associated with a range of skeletal myopathies with or without cardiac involvement, including Laing distal myopathy and Myosin storage myopathy. Recently the spectrum of clinical phenotypes associated with mutations in MYH7 has increased, blurring this scheme and adding further phenotypes to the list. A broader disease spectrum could lead to misdiagnosis of different congenital myopathies, neurogenic atrophy and other neuromuscular conditions. Results: As a result of a multicenter Italian study we collected clinical, histopathological and imaging data from a population of 21 cases from 15 families, carrying reported or novel mutations in MYH7. Patients displayed a variable phenotype including atypical pictures, as dropped head and bent spine, which cannot be classified in previously described groups. Half of the patients showed congenital or early infantile weakness with predominant distal weakness. Conversely, patients with later onset present prevalent proximal weakness. Seven patients were also affected by cardiomyopathy mostly in the form of non-compacted left ventricle. Muscle biopsy was consistent with minicores myopathy in numerous cases. Muscle MRI was meaningful in delineating a shared pattern of selective involvement of tibialis anterior muscles, with relative sparing of quadriceps. Conclusion: This work adds to the genotype-phenotype correlation of MYH7-relatedmyopathies confirming the complexity of the disorder.

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Skeletal muscle fiber type: using insights from muscle developmental biology to dissect targets for susceptibility and resistance to muscle disease

Talbot

Maves

2016

WIREs Developmental Biology

289

279

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Skeletal muscle fibers are classified into fiber types, in particular slow twitch versus fast twitch. Muscle fiber types are generally defined by the particular myosin heavy chain isoforms that they express, but many other components contribute to a fiber’s physiological characteristics. Skeletal muscle fiber type can have a profound impact on muscle diseases, including certain muscular dystrophies and sarcopenia, the aging-induced loss of muscle mass and strength. These findings suggest that some muscle diseases may be treated by shifting fiber type characteristics either from slow to fast, or fast to slow phenotypes, depending on the disease. Recent studies have begun to address which components of muscle fiber types mediate their susceptibility or resistance to muscle disease. However, for many diseases it remains largely unclear why certain fiber types are affected. A substantial body of work has revealed molecular pathways that regulate muscle fiber type plasticity and early developmental muscle fiber identity. For instance, recent studies have revealed many factors that regulate muscle fiber type through modulating the activity of the muscle regulatory transcription factor MYOD1. Future studies of muscle fiber type development in animal models will continue to enhance our understanding of factors and pathways that may provide therapeutic targets to treat muscle diseases.

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A rare mutation in MYH7 gene occurs with overlapping phenotype

Cited by 16 publications

References 12 publications

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients

Skeletal muscle fiber type: using insights from muscle developmental biology to dissect targets for susceptibility and resistance to muscle disease

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