Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation

Neurology

Volumn 74, Issue 6, 2010, Pages 519-521

  Claeys, K G ^a   Maisonobe, T ^a,b   Bohm J ^c   Laporte, J ^c   Hezode, M ^a   Romero, N B ^a,d,e   Brochier, G ^a   Bitoun, M ^d,e   Carlier, R Y ^a,f   Stojkovic, T ^a,d,e  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c Centre de Recherche Interdisciplinaire en Biologie   (France)

^d INSERM   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f RAYMOND POINCARÉ HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMPHIPHYSIN; AMPHIPHYSIN 2; CREATINE KINASE; DYNAMIN II; MUSCLE PROTEIN; MYOTUBULARIN; UNCLASSIFIED DRUG;

ADULT; ARTERIAL GAS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CENTRONUCLEAR MYOPATHY; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DISEASE COURSE; ELECTROMYOGRAM; FAMILY HISTORY; HEART FUNCTION; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYSOMNOGRAPHY; PRIORITY JOURNAL;

EID: 76649142079     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181cef7f9     Document Type: Article

References (7)

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