Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations

Neuromuscular Disorders

Volumn 20, Issue 6, 2010, Pages 375-381

  Tosch, Valerie ^a,b,c,d,e   Vasli, Nasim ^a,b,c,d,e   Kretz, Christine ^a,b,c,d,e   Nicot, Anne Sophie ^a,b,c,d,e   Gasnier, Claire ^d   Dondaine, Nicolas ^d   Oriot, Denis ^f   Barth, Magalie ^g   Puissant, Hugues ^g   Romero, Norma B ^h   Bönnemann, Carsten G ⁱ   Heller, Betty ^b,c,d   Duval, Gilles ^b,c,d   Biancalana, Valérie ^a,b,c,d,e   Laporte, Jocelyn ^a,b,c,d,e  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b INSERM   (France)

^c CNRS   (France)

^d UNIVERSITÉ DE STRASBOURG   (France)

^e l'alimentation et l'Environnement   (France)

^f POITIERS UNIVERSITY HOSPITAL   (France)

^g ANGERS UNIVERSITY HOSPITAL   (France)

^h SORBONNE UNIVERSITÉ   (France)

ⁱ UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Centronuclear myopathy; Intronic mutations; MTM1; Myotubular myopathy; Myotubularin; XLMTM

Indexed keywords

3 PHOSPHOINOSITIDE PHOSPHATASE; COMPLEMENTARY DNA; ENZYME ANTIBODY; MYOTUBULARIN; NUCLEOTIDE; PHOSPHATASE; UNCLASSIFIED DRUG; DNA; MESSENGER RNA; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CELL CULTURE; CENTRONUCLEAR MYOPATHY; CLINICAL ARTICLE; CLINICAL TRIAL; CONTROLLED STUDY; CROSSOVER PROCEDURE; DIAGNOSTIC PROCEDURE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; INTRON; MISSENSE MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WESTERN BLOTTING; X CHROMOSOME LINKAGE; BIOSYNTHESIS; EXON; GENETICS; MOLECULAR GENETICS; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; PHYSIOLOGY; X CHROMOSOMAL INHERITANCE;

BASE SEQUENCE; BLOTTING, WESTERN; CELLS, CULTURED; DNA; EXONS; GENES, X-LINKED; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 77953232661     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.03.015     Document Type: Article

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