Heterogeneity of nemaline myopathy cases with skeletal muscle α‐actin gene mutations

Prenatal diagnosis of congenital myopathies and muscular dystrophies

D Massalska, JG Zimowski, J Bijok… - Clinical …, 2016 - Wiley Online Library
Congenital myopathies and muscular dystrophies constitute a genetically and
phenotypically heterogeneous group of rare inherited diseases characterized by muscle …
被引用次数：31 相关文章 所有 4 个版本

Prevalence and phenotypes of congenital myopathy due to α‐actin 1 gene mutations

N Witting, U Werlauff, M Duno, J Vissing - Muscle & nerve, 2016 - Wiley Online Library
Introduction Congenital myopathy due to mutations in the α‐actin 1 gene (ACTA1) was
identified in 1999, but knowledge of prevalence and phenotype in patients who survive 5 …
被引用次数：20 相关文章 所有 5 个版本

Gene discovery in congenital myopathy

LL Smith, VA Gupta, AH Beggs - Regenerative medicine for degenerative …, 2016 - Springer
The congenital myopathies (CMs) are a heterogeneous group of inherited neuromuscular
disorders that manifest as skeletal muscle weakness at birth or early in life and are defined …
被引用次数：3 相关文章 所有 3 个版本
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Estudo clínico, histológico e molecular na miopatia congênita nemalínica e na miopatia congênita com alterações mínimas

CAM Moreno - 2016 - teses.usp.br
Introdução: As miopatias congênitas são doenças musculares genéticas caracterizadas por
hipotonia e fraqueza muscular de início precoce na infância. Histologicamente são …
相关文章 所有 4 个版本