Mutation studies in X-linked myotubular myopathy in three indian families

Indian Journal of Pediatrics

Volumn 77, Issue 4, 2010, Pages 431-433

  Bijarnia, Sunita ^a   Puri, Ratna D ^a   Jain, Monika ^a   Kler, Neelam ^b   Roy, Subimal ^c   Urtizberea, J Andoni ^d   Biancalana, Valerie ^d   Verma, I C ^a  

^a Center of Medical Genetics and Primary Health Care   (Armenia)

^b SIR GANGA RAM HOSPITAL   (India)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d UNIVERSITÉ DE STRASBOURG   (France)

Author keywords

Indian; MTM1; Mutation studies; X linked myotubular myopathy

Indexed keywords

ARTICLE; CASE REPORT; CENTRONUCLEAR MYOPATHY; DISEASE SEVERITY; FAMILY; GENE MUTATION; GENETIC COUNSELING; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INDIA; MALE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NEWBORN; PHYSICAL EXAMINATION; PRENATAL DIAGNOSIS; PRENATAL PERIOD; X CHROMOSOME LINKED DISORDER; GENETICS; MUTATION; MYOPATHY; PATHOLOGY; SKELETAL MUSCLE;

MYOTUBULARIN; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE;

GENETIC DISEASES, X-LINKED; HUMANS; INFANT, NEWBORN; MALE; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR;

EID: 77955972479     PISSN: 00195456     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12098-010-0057-6     Document Type: Article

References (7)

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