Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy [2]

American Journal of Medical Genetics

Volumn 134 A, Issue 3, 2005, Pages 338-340

  Zanoteli, Edmar ^a   Oliveira, Acary S B ^a   Gabbai, Alberto A ^a   Laporte, Jocelyn ^b   Kretz, Christine ^b   Mandel, Jean Louis ^b   Buj Bello, Anna ^b   Rocha, José C C ^a   Perez, Ana B A ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

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

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

CASE REPORT; CENTRONUCLEAR MYOPATHY; CHILD; GENE; GENE DELETION; GENE MAPPING; GENE MUTATION; HUMAN; LETTER; MALE; MISSENSE MUTATION; MTM1 GENE; MTMR1 GENE; MYOPATHY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN BLOTTING; SYNDROME DELINEATION;

BLOTTING, SOUTHERN; CHILD, PRESCHOOL; EXONS; GENE DELETION; HUMANS; MALE; MYOPATHIES, STRUCTURAL, CONGENITAL; PROTEIN-TYROSINE-PHOSPHATASE;

EID: 16344364738     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30574     Document Type: Letter

References (14)

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