Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).

Child; Female; Humans; Muscle Proteins/genetics/metabolism; Muscle, Skeletal/metabolism/pathology; Mutation; Myopathies, Nemaline/genetics/pathology/physiopathology; Phenotype; KLHL40; Nemaline myopathy

Abstract :

[en] Nemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Mutations in the KLHL40 (kelch-like family member 40) gene (NEM 8) are common cause of severe/lethal nemaline myopathy. We report an 8-year-old girl born to consanguineous Moroccan parents, who presented with hypotonia and poor sucking at birth, delayed motor development, and further mild difficulties in walking and fatigability. A muscle biopsy revealed the presence of nemaline bodies. KLHL40 gene Sanger sequencing disclosed a never before reported pathogenic homozygous mutation which resulted in absent KLHL40 protein expression in the muscle. This further expands the phenotypical spectrum of KLHL40 related nemaline myopathy.

Disciplines :

Pediatrics

Author, co-author :

Seferian, Andreea M.

Malfatti, Edoardo

Bosson, Caroline

Pelletier, Laurent

Taytard, Jessica

Forin, Veronique

Gidaro, Teresa

Gargaun, Elena

Carlier, Pierre

Faure, Julien

More authors (3 more)

Language :

English

Title :

Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).

Publication date :

2016

Journal title :

Neuromuscular Disorders

ISSN :

0960-8966

eISSN :

1873-2364

Publisher :

Elsevier, Netherlands

Volume :

Issue :

Pages :

712-716

Peer reviewed :

Peer Reviewed verified by ORBi

Commentary :

Available on ORBi :

since 18 February 2022

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Bibliography

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