Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene

Ferbert, A.; Zibat, Arne; Rautenstrauß, Bernd; Kreß, Wolfram; Hügens-Penzel, M.; Weis, Joachim; Shah, Yogesh P.; Roth, Christian

doi:10.1016/j.nmd.2016.06.458

Cited by 10 publications

(14 citation statements)

References 15 publications

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“…Clinical and electrophysiological neurogenic changes were previously described. 11,28 One of the main aims of the study was to search for characteristic features of muscle imaging that could be used for diagnostic purposes. The standardized scoring of the signal and degree of atrophy of each muscle and its graphical representation by using heatmaps revealed a characteristic pattern.…”

Section: Discussionmentioning

confidence: 99%

Clinical and imaging hallmarks of the MYH7‐related myopathy with severe axial involvement

et al. 2018

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Section: Discussionmentioning

confidence: 99%

Clinical and imaging hallmarks of the MYH7‐related myopathy with severe axial involvement

et al. 2018

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“…2 TITLE: A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain Carbonell-Corvillo, P. 1 (MD); Tristán-Clavijo, E. 2 (PhD); Cabrera-Serrano, M. 1,3 (MD); Servián-Morilla E. 1 (PhD); García-Martín, G. 4 (MD); Villarreal-Pérez, L. 1 (MD); Rivas-Infante, E. 5 (MD); Area-Gómez, E. 6 (PhD); Chamorro-Muñoz, M.I. 4 (MD); Gil-Gálvez A.…”

Section: Manuscriptmentioning

confidence: 99%

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain

Carbonell-Corvillo

Tristán-Clavijo

Cabrera‐Serrano

et al. 2018

Neuromuscular Disorders

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MYH7 gene mutations are associated with wide clinical and genetic heterogeneity. We report a novel founder mutation in MYH7 in Southern Spain (Andalucía). We studied two index patients and 24 family members from two apparently independent families by physical examination, serum creatine-kinase, muscle MRI, sequencing studies and genetic linkage analysis. Sixteen individuals were heterozygous for a (p.R1560P) variant in the MYH7 gene. Haplotype was consistent with a common ancestor for the two families. The patients displayed the classic Laing distal myopathy phenotype, with hanging first toe as the initial presentation, even in mildly affected patients who declared themselves asymptomatic, although neck flexor weakness was revealed as an early sign in some cases. MRI showed that the sartorius was the first muscle involved, even in two out of three asymptomatic carriers. Our findings support the novel variant p.R1560P in MYH7 as a founder mutation in Andalucía. The early involvement of the sartorius muscle in MRI may be useful as an indicator of affection status.

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“…The MYH7 gene is approximately 22883 bp long, consists of 40 exons, and is located on chromosome 14. The MYH7 gene is one member of the MYH gene family, which encode the myosin heavy chains Here, we report a MSM phenotype associated with a mutation in exon 28 of the MYH7 gene that was present across three generations of individuals from the same family.…”

Section: Introductionmentioning

confidence: 86%

“…Data were aligned on the UCSC hg19 reference sequence using the BWA algorithm 8 (11,14). Mutations in exon 37-39 of the MYH7 gene are primarily responsible for MSM, while mutations in exon 32-36 result in LDM (15).…”

Section: Whole Genome Sequencingmentioning

confidence: 99%

The association of the Arg1277Gln mutation in the MYH7 gene with myosin storage myopathy in a Chinese family

Liu

2020

Preprint

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Background Myosin storage myopathy (MSM) is caused by missense mutations in the MYH7 gene, which encodes the β-cardiac/slow skeletal muscle myosin heavy chain rod (MyHCI). MSM is an autosomal dominant/recessive myopathy characterized by subsarcolemmal accumulations of myosin in type I muscle fibers that results in weakness of the scapula, limb and distal muscles.Methods Here, we report a MSM phenotype that was present across three generations of individuals from the same family, one of whom was a neonate.Results At birth, the neonate had an elevated creatine kinase level and decreased muscle tone in the limbs. At 2 months of age, the infant’s cervical vertebrae caused his head to be skewed to the right. At 7 months of age, the infant’s development was delayed.Whole exome sequencing showed a novel heterozygous variant NM_000257.3: c.3830G>A (p.Arg1277Gln) at exon 28 of the MYH7 gene in the DNA of the infant and his father.Conclusions Previously, which site has only been reported in 2 cases of cardiomyopathy; therefore, this study expands our knowledge of the clinical phenotypes associated with mutations within the rod region of MyHCI. Importantly, close follow-up of the neonate will provide important information on the natural history of MSM associated with MYH7 gene mutation.

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Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene

Cited by 10 publications

References 15 publications

Clinical and imaging hallmarks of the MYH7‐related myopathy with severe axial involvement

Clinical and imaging hallmarks of the MYH7‐related myopathy with severe axial involvement

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain

The association of the Arg1277Gln mutation in the MYH7 gene with myosin storage myopathy in a Chinese family

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