Scapuloperoneal Myopathy and Cardiomyopathy with a Novel MYH7 Mutation: A Case Report
نویسندگان
چکیده
منابع مشابه
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
IMPORTANCE New genomic strategies can now be applied to identify a diagnosis in patients and families with previously undiagnosed rare genetic conditions. The large family evaluated in the present study was described in 1966 and now expands the phenotype of a known neuromuscular gene. OBJECTIVE To determine the genetic cause of a slowly progressive, autosomal dominant, scapuloperoneal neuromu...
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Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculo...
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Background CombinedMethylmalonic Aciduria (MMA), and homocystinuria CblC type is the most common inborn error of cobalamin metabolism with 77 mutations identified till date in the MMACHC gene. The disease has early and late presentations with varied clinical features. Case report A pair of preterm monochorionic twins was born to non-consanguineous parents with history of 2 previous infant deat...
متن کاملAdult onset scapuloperoneal myopathy.
Six cases are described of muscle weakness and wasting of scapuloperoneal distribution with an onset in early adult or middle life and a relatively benign progression. One case also showed mild facial weakness. Four cases were probably sporadic but in two, a mother and daughter, autosomal dominant inheritance was likely. Electromyographic studies demonstrated myopathic features in all, and this...
متن کاملApical Hypertrophic Cardiomyopathy in a Case with Chest Pain and Family History of Sudden Cardiac Death: A Case Report
Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease, which is caused by a multitude of mutations in genes encoding proteins of the cardiac sarcomere (1). Apical hypertrophic cardiomyopathy (AHCM) is an uncommon type of HCM. The sudden cardiac death is less likely to occur in the patients inflicted with AHCM (2). Herein, we presented the case of a 29-year-old man ...
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ژورنال
عنوان ژورنال: RRNMF Neuromuscular Journal
سال: 2020
ISSN: 2692-3092
DOI: 10.17161/rrnmf.v1i2.13585