Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy

Neuromuscular Disorders

Volumn 22, Issue 6, 2012, Pages 541-545

  Gurgel Giannetti, Juliana ^a   Zanoteli, Edmar ^b   de Castro Concentino, Eralda Luiza ^a   Neto, Osorio Abath ^b   Pesquero, João Bosco ^c   Reed, Umbertina Conti ^b   Vainzof, Mariz ^b  

^a FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

MTM1 gene; Necklace fibers; Severe neonatal phenotype; X linked myotubular myopathy

Indexed keywords

ACTIN; ADENOSINE TRIPHOSPHATASE; ALPHA ACTININ 3; CYTOSINE; DESMIN; THYMINE;

AGE DISTRIBUTION; AMINO ACID SUBSTITUTION; AREFLEXIA; ARTICLE; ARTIFICIAL VENTILATION; ASPHYXIA; BRAIN ATROPHY; CASE REPORT; CENTRONUCLEAR MYOPATHY; CHILD; COMPUTER ASSISTED TOMOGRAPHY; DISEASE ASSOCIATION; DISEASE SEVERITY; HISTOPATHOLOGY; HUMAN; MALE; MARKER GENE; MTM1 GENE; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NECKLACE MUSCLE FIBER; OPHTHALMOPLEGIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; X CHROMOSOME LINKED DISORDER;

CHILD, PRESCHOOL; FATAL OUTCOME; HUMANS; INFANT; MALE; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MYOPATHIES, STRUCTURAL, CONGENITAL; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR; SIBLINGS;

EID: 84860577986     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.12.005     Document Type: Article

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