Selective muscular atrophy in a family with hereditary myopathy with early respiratory failure
نویسندگان
چکیده
منابع مشابه
Titin mutation segregates with hereditary myopathy with early respiratory failure.
In 2001, we described an autosomal dominant myopathy characterized by neuromuscular ventilatory failure in ambulant patients. Here we describe the underlying genetic basis for the disorder, and we define the neuromuscular, respiratory and radiological phenotype in a study of 31 mutation carriers followed for up to 31 years. A combination of genome-wide linkage and whole exome sequencing reveale...
متن کاملCardiac involvement in hereditary myopathy with early respiratory failure
OBJECTIVE To assess whether hereditary myopathy with early respiratory failure (HMERF) due to the c.951434T>C; (p.Cys31712Arg) TTN missense mutation also includes a cardiac phenotype. METHOD Clinical cohort study of our HMERF cohort using ECG, 2D echocardiogram, and cross-sectional cardiac imaging with MRI or CT. RESULTS We studied 22 participants with the c.951434T>C; (p.Cys31712Arg) TTN m...
متن کاملHereditary myopathy with early respiratory failure: occurrence in various populations.
OBJECTIVE Several families with characteristic features of hereditary myopathy with early respiratory failure (HMERF) have remained without genetic cause. This international study was initiated to clarify epidemiology and the genetic underlying cause in these families, and to characterise the phenotype in our large cohort. METHODS DNA samples of all currently known families with HMERF without...
متن کاملHereditary myopathy with early respiratory failure associated with a mutation in A-band titin.
Hereditary myopathy with early respiratory failure and extensive myofibrillar lesions has been described in sporadic and familial cases and linked to various chromosomal regions. The mutated gene is unknown in most cases. We studied eight individuals, from three apparently unrelated families, with clinical and pathological features of hereditary myopathy with early respiratory failure. The inve...
متن کاملHereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.
Sir, Hereditary myopathy with early respiratory failure (HMERF) is a neuromuscular disease associated with aggregation of various proteins in muscle fibres and muscle degeneration (Fig. 1) and was described in detail in several families by Edström et al. (1990). Linkage analyses indicated that the disease locus was in the distal part of the long arm of chromosome 2 (Nicolao et al., 1999). Titin...
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ژورنال
عنوان ژورنال: Rinsho Shinkeigaku
سال: 2020
ISSN: 0009-918X,1882-0654
DOI: 10.5692/clinicalneurol.cn-001380