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Neuromuscul Disord. 2016 Oct;26(10):712-716. doi: 10.1016/j.nmd.2016.07.011. Epub 2016 Jul 29.

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

Author information

1
I-Motion - Research Center for Pediatric Neuromuscular Diseases, Armand Trousseau Hospital, Paris, France. Electronic address: a.seferian@institut-myologie.org.
2
Sorbonne Universities, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, Paris, France; Unit of Neuromuscular Morphology, Institute of Myology, GHU La Pitié-Salpêtrière, Paris, France; Reference center for Neuromuscular Pathologies for Eastern Paris, Institute of Myology, AP-HP, GHU La Pitié-Salpêtrière, Paris, France.
3
Departement of Biochemistry, Molecular Biochemistry and Genetics, Toxicology and Pharmacology, Grenoble Alpes University, GIN Institute of Neurosciences, Grenoble, France.
4
Pediatric Pulmonology Department, AP-HP, Armand Trousseau Hospital, Université Pierre et Marie Curie-Paris6, Inserm U938, Paris, France.
5
Pediatric Rehabilitation Department, AP-HP, Armand Trousseau Hospital, Paris, France.
6
I-Motion - Research Center for Pediatric Neuromuscular Diseases, Armand Trousseau Hospital, Paris, France.
7
NMR Laboratory, Institute of Myology, AIM & CEA, Paris, France.
8
I-Motion - Research Center for Pediatric Neuromuscular Diseases, Armand Trousseau Hospital, Paris, France. Electronic address: l.servais@institut-myologie.org.

Abstract

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.

KEYWORDS:

KLHL40; Nemaline myopathy

PMID:
27528495
DOI:
10.1016/j.nmd.2016.07.011
[Indexed for MEDLINE]

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