Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation

Acta Myologica

Volumn 28, Issue 3, 2009, Pages 91-93

  Mejaddam, A Y ^a   Nennesmo, I ^b   Sejersen, Thomas ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

BIN1; Centronuclear myopathy; Phenotype

Indexed keywords

ADOLESCENT; ARTICLE; ASSISTED VENTILATION; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CENTRONUCLEAR MYOPATHY; CLINICAL FEATURE; HUMAN; HUMAN TISSUE; HYPERCAPNIA; MALE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPE; WALKING DIFFICULTY;

ADOLESCENT; BIOPSY, NEEDLE; CODON, NONSENSE; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HUMANS; MALE; MUSCLE, SKELETAL; MYOPATHIES, STRUCTURAL, CONGENITAL; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE;

EID: 77951820960     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Nicot AS, Toussaint A, Tosch V, et al. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nature Genetics 2007;39:1134-1139
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4. Owen DJ, Wigge P, Vallis Y, et al. Crystal structure of the amphiphysin-2 SH3 domain and its role in the prevention of dynamin ring formation. The EMBO Journal 1998;17:5273-5285 (Pubitemid 28427043)
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