Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation

Neuromuscular Disorders

Volumn 20, Issue 12, 2010, Pages 801-804

  Liewluck, Teerin ^a   Lovell, Tracy L ^b   Bite, Anna V ^a   Engel, Andrew G ^a  

^a Mayo Clinic   (United States)

^b Northeast Georgia Diagnostic Clinic   (United States)

Author keywords

Centronuclear myopathy; DNM2; Dynamin 2; Muscle hypertrophy; Muscle pseudohypertrophy; Necklace fibers; Neutropenia

Indexed keywords

1,4 DIHYDROPYRIDINE RECEPTOR; ANALGESIC AGENT; ANTIEMETIC AGENT; BETA CRYSTALLIN; CREATINE KINASE; DESMIN; DIHYDROPYRIDINE RECEPTOR ALPHA 1 SUBUNIT; DYNAMIN II; SARCOPLASMIC RETICULUM CALCIUM TRANSPORTING ADENOSINE TRIPHOSPHATASE; UNCLASSIFIED DRUG;

ABDOMINAL PAIN; ADULT; ARTICLE; CASE REPORT; CENTRONUCLEAR MYOPATHY; COMPUTER ASSISTED TOMOGRAPHY; CREATINE KINASE BLOOD LEVEL; DNM2 GENE; EPIGASTRIC DISCOMFORT; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE HYPERTROPHY; MUSCLE PSEUDOHYPERTROPHY; NAUSEA; NEUTROPENIA; PRIORITY JOURNAL;

DYNAMIN II; HUMANS; MALE; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; NEUTROPENIA; YOUNG ADULT;

EID: 78650169783     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.07.273     Document Type: Article

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