Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: A clinical and genetic study

Neuromuscular Disorders

Volumn 17, Issue 2, 2007, Pages 180-185

  Pénisson Besnier, Isabelle ^a   Biancalana, Valérie ^b   Reynier, Pascal ^a   Cossée, Mireille ^b   Dubas, Frédéric ^a  

^a ANGERS UNIVERSITY HOSPITAL   (France)

^b UNIVERSITY HOSPITAL OF STRASBOURG   (France)

Author keywords

Diaphragmatic paresis; Female carrier; Symptomatic heterozygote; X inactivation; X linked myotubular myopathy

Indexed keywords

CHOLINESTERASE INHIBITOR; DNA; LEUCINE; MYOTUBULARIN; PROTEIN TYROSINE PHOSPHATASE; UNCLASSIFIED DRUG;

AGED; ARM WEAKNESS; ARTICLE; CASE REPORT; CENTRONUCLEAR MYOPATHY; DIAPHRAGM PARALYSIS; FEMALE; GENE; GENE DELETION; GENE MUTATION; HEMIDIAPHRAGM; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MTM1 GENE; MUSCLE BIOPSY; MUSCLE MITOCHONDRION; OXYGEN THERAPY; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; RESPIRATORY FAILURE; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

AGED, 80 AND OVER; BLEPHAROPTOSIS; BLOTTING, SOUTHERN; CREATINE KINASE; DNA; DYNAMIN II; FEMALE; HETEROZYGOTE; HUMANS; LACTIC ACID; MUSCLE, SKELETAL; MYOPATHIES, STRUCTURAL, CONGENITAL; PEDIGREE; PHENOTYPE; PROTEIN-TYROSINE-PHOSPHATASE; RESPIRATORY PARALYSIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TOMOGRAPHY, X-RAY COMPUTED; X CHROMOSOME;

EID: 33847234288     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.10.008     Document Type: Article

References (13)

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