Dystrophinopathy in girls with limb girle muscular dystrophy phenotype

Journal of Clinical Neuromuscular Disease

Volumn 11, Issue 4, 2010, Pages 203-208

  Golla, Sailaja ^a   Agadi, Satish ^a   Burns, Dennis K ^a   Marks, Warren ^b   Dev Batish, Sat ^c   Del Gaudio, Daniela ^d   Iannaccone, Susan T ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b Cook Children's Medical Center ^*  (United States)

^c ATHENA DIAGNOSTICS INC   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Dystrophinopathy; Female carriers; Limb girdle muscular dystrophy (LGMD)

Indexed keywords

ALPHA SARCOGLYCAN; BETA SARCOGLYCAN; CREATINE KINASE; DELTA SARCOGLYCAN; DYSTROGLYCAN; DYSTROPHIN; GAMMA SARCOGLYCAN; SARCOGLYCAN;

CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DUCHENNE MUSCULAR DYSTROPHY; FAMILY HISTORY; FEMALE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MEDICAL RECORD REVIEW; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; SCHOOL CHILD;

CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; EXONS; FEMALE; GENOTYPE; HUMANS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; RETROSPECTIVE STUDIES;

EID: 77953283595     PISSN: 15220443     EISSN: 15371611     Source Type: Journal    
DOI: 10.1097/CND.0b013e3181c7f18f     Document Type: Review

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