Results 191 to 200 of about 924,459 (214)

Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy. [PDF]

J Neuromuscul Dis
Estévez-Arias B, Matalonga L, Martorell L, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Yubero D, Hoenicka J, Jou C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento A, Natera-de Benito D.   +15 more
europepmc   +1 more source

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

Muscle and Nerve, 2016
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 years is lacking.METHODS: A national cohort of 91 patients aged ≥5 years and ...
John Vissing, Nanna Witting, Ulla Werlauff   +2 more
exaly   +3 more sources

Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei

Journal of Neuromuscular Diseases, 2018
Congenital myopathies are clinically and genetically heterogeneous, and are classified based on typical structural abnormalities on muscle sections. Recessive mutations in the striated muscle preferentially expressed protein kinase (SPEG) were recently ...
X. Lornage, P. Sabouraud, B. Lannes, D. Gaillard, R. Schneider, J. Deleuze, A. Boland, Julie D. Thompson, J. Böhm, V. Biancalana, J. Laporte   +10 more
semanticscholar   +2 more sources

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STAC3 related congenital myopathy: A case series of seven Comorian patients.

European Journal of Medical Genetics, 2022
The Bailey-Bloch congenital myopathy, also known as Native American myopathy (NAM), is an autosomal recessive congenital myopathy first reported in the Lumbee tribe people settled in North Carolina (USA), and characterized by congenital weakness and ...
Marie Gromand, P. Gueguen, A. Pervillé, Fanny Ferroul, G. Morel, Anrifati Harouna, B. Doray, J. Urtizberea, J. Alessandri, S. Robin   +9 more
semanticscholar   +1 more source

RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine

Neuromuscular Disorders, 2014
S A Robb, A Manzur, S A Robb
exaly   +2 more sources

Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy

Neuromuscular Disorders, 2014
John Vissing, Nanna Witting, Ulla Werlauff   +2 more
exaly   +2 more sources

Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy

Clinical Genetics, 2020
Congenital myopathies include a wide range of genetically determined disorders characterized by muscle weakness that usually manifest shortly after birth. To date, two different homozygous loss‐of‐function variants in the HACD1 gene have been reported to
L. Abbasi-Moheb, A. Westenberger, Maha Alotaibi, M. Alghamdi, J. Hertecant, Amir Ariamand, C. Beetz, A. Rolfs, A. Bertoli-Avella, P. Bauer   +9 more
semanticscholar   +1 more source

Whole‐exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations

European Journal of Neurology, 2020
Congenital muscular dystrophies (CMDs) and congenital myopathies (CMs) are a group of genetically and clinically heterogeneous degenerative primary muscle disorders with onset at birth or during infancy.
S. Sanga, Arnab Ghosh, Krishna Kumar, K. Polavarapu, Veeramani Preethish-Kumar, S. Vengalil, S. Nashi, M. Bardhan, G. Arunachal, Sanita Raju, N. Gayathri, N. Biswas, S. Chakrabarti, A. Nalini, Sudipto Roy, Moulinath Acharya   +15 more
semanticscholar   +1 more source

Congenital Muscular Dystrophy and Congenital Myopathy.

Continuum, 2019
PURPOSE OF REVIEW Congenital muscular dystrophies and congenital myopathies are a heterogeneous group of disorders resulting in hypotonia, muscle weakness, and dystrophic or myopathic features on muscle biopsy.
R. Butterfield
semanticscholar   +1 more source

Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation

Journal of Medical Genetics
Background Congenital myopathies are a clinical, histopathological and genetic heterogeneous group of inherited muscle disorders that are defined on peculiar architectural abnormalities in the muscle fibres. Although there have been at least 33 different
Y.S. Wan, Chao Zhou, Xingzhi Chang, Liwen Wu, Yi-Lei Zheng, Jia-Xi Yu, Li Bai, Mingyue Luan, Meng Yu, Qi Wang, Wei Zhang, Yun Yuan, Jian-Wen Deng, Zhao-Xia Wang   +13 more
semanticscholar   +1 more source