A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

Jokela, Manu; Lehtinen, Sara; Palmio, Johanna; Saukkonen, Anna-Maija; Huovinen, Sanna; Vihola, Anna; Udd, Bjarne

doi:10.1007/s00415-019-09307-y

Cited by 10 publications

(7 citation statements)

References 6 publications

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“…MD is an autosomal dominant inheritance disease that typically manifests in adulthood 6 . Our patient, a 32-year-old individual, has been experiencing symptoms of MD for the past 12 years.…”

Section: Clinical Discussionmentioning

confidence: 99%

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Male infertility with muscle weakness: a point of view

Khalayli,

Achmeh,

Ali

et al. 2023

Annals of Medicine &Amp; Surgery

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Introduction and importance: The most common causes of infertility are idiopathic spermatogenetic disorders; occurring in multiple reproductive or systemic diseases. The underlying genetic disorders influence the treatment, and transmission of the disease to the offspring. Case presentation: A 32-year-old Syrian male, married for 6 years, presented with primary infertility. The patient had a history of muscle dystrophy for 12 years. He had no previous medical, drug addiction, or family history. He had gynaecomastia. Semen analysis revealed: oligospermia in the patient. FSH was elevated. Gene analysis could not be done due to funding issues.The Percutaneous testicular biopsy revealed hypospermatogenesis, atrophy, and marked hyalization of the seminiferous tubules.Electromyography of the upper extremities demonstrated myotonic discharges, with a waxing–waning frequency, amplitude and a characteristic ‘engine revving’ sound. Clinical discussion: Myotonic dystrophy is an autosomal dominant inheritance disease, with adult-onset. Muscle weakness is the predominant presenting feature, with early involvement of the distal limbs and neck muscles, and a characteristic facial appearance. Systemic clinical manifestations may include cardiac conduction defects, cataracts, insulin resistance and diabetes, testicular atrophy with impaired spermatogenesis, and others. Testicular biopsy findings are specific. To our knowledge, this is the first case of male infertility associated with MD in Syria. Although there are no data on the prevalence of MD1 in Syria. Conclusion: The practicing physician should keep in mind the frequent association between MD, and infertility.

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Section: Clinical Discussionmentioning

confidence: 99%

“…A significant number of cases of idiopathic azoospermia may have a genetic etiology. Consequently, some of these patients may harbor larger trinucleotide repeat alleles, which can contribute to an elevated risk of heritable diseases in their progeny 6 , 7 , 14 , 15 .…”

Section: Clinical Discussionmentioning

confidence: 99%

Male infertility with muscle weakness: a point of view

Khalayli,

Achmeh,

Ali

et al. 2023

Annals of Medicine &Amp; Surgery

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“…In 2018, the classification of LGMDs was refined [ 100 ]. The refined classification of LGMDs, including the names of genes and proteins of LGMD-causing genetic variants, is presented in Table 1 [ 100 , 101 , 102 , 103 ]. Several LGMDs are not listed in the refined classification because they were found to be associated with other diseases, discovered in only one family and not in any patients subsequently diagnosed, or simply misreported.…”

Section: Trim32 and Limb–girdle Muscular Dystrophies (Lgmds)mentioning

confidence: 99%

Tripartite Motif-Containing Protein 32 (TRIM32): What Does It Do for Skeletal Muscle?

Jeong,

Choi,

Kim

et al. 2023

Cells

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Tripartite motif-containing protein 32 (TRIM32) is a member of the tripartite motif family and is highly conserved from flies to humans. Via its E3 ubiquitin ligase activity, TRIM32 mediates and regulates many physiological and pathophysiological processes, such as growth, differentiation, muscle regeneration, immunity, and carcinogenesis. TRIM32 plays multifunctional roles in the maintenance of skeletal muscle. Genetic variations in the TRIM32 gene are associated with skeletal muscular dystrophies in humans, including limb–girdle muscular dystrophy type 2H (LGMD2H). LGMD2H-causing genetic variations of TRIM32 occur most frequently in the C-terminal NHL (ncl-1, HT2A, and lin-41) repeats of TRIM32. LGMD2H is characterized by skeletal muscle dystrophy, myopathy, and atrophy. Surprisingly, most patients with LGMD2H show minimal or no dysfunction in other tissues or organs, despite the broad expression of TRIM32 in various tissues. This suggests more prominent roles for TRIM32 in skeletal muscle than in other tissues or organs. This review is focused on understanding the physiological roles of TRIM32 in skeletal muscle, the pathophysiological mechanisms mediated by TRIM32 genetic variants in LGMD2H patients, and the correlations between TRIM32 and Duchenne muscular dystrophy (DMD).

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“…Many genes are associated with a broad range of phenotypes, and these ranges are continuously expanding. [115][116][117] Proximal weakness in particular occurs not only in LGMD, but also in many other inherited myopathies (eg, Bethlem myopathy, [118][119][120][121][122] congenital myopathies, 7,121,122 myofibrillar myopathies, 121 and others). Indeed, WES has revealed that these disorders account for a significant proportion of patients with LGMD-like phenotypes.…”

Section: General Approachmentioning

confidence: 99%

Guidelines for genetic testing of muscle and neuromuscular junction disorders

2021

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Despite recent advances in the understanding of inherited muscle and neuromuscular junction diseases, as well as the advent of a wide range of genetic tests, patients continue to face delays in diagnosis of sometimes treatable disorders. These guidelines outline an approach to genetic testing in such disorders. Initially, a patient's phenotype is evaluated to identify myopathies requiring directed testing, including myotonic dystrophies, facioscapulohumeral muscular dystrophy, oculopharyngeal muscular dystrophy, mitochondrial myopathies, dystrophinopathies, and oculopharyngodistal myopathy. Initial investigation in the remaining patients is generally a comprehensive gene panel by next-generation sequencing. Broad panels have a higher diagnostic yield and can be cost-effective. Due to extensive phenotypic overlap and treatment implications, genes responsible for congenital myasthenic syndromes should be included when evaluating myopathy patients. For patients whose initial genetic testing is negative or inconclusive, phenotypic re-evaluation is warranted, along with consideration of genes and variants not included initially, as well as their acquired mimickers.

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A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

Cited by 10 publications

References 6 publications

Male infertility with muscle weakness: a point of view

Male infertility with muscle weakness: a point of view

Tripartite Motif-Containing Protein 32 (TRIM32): What Does It Do for Skeletal Muscle?

Guidelines for genetic testing of muscle and neuromuscular junction disorders

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