Severe γ-sarcoglycanopathy caused by a novel missense mutation and a large deletion

Neuromuscular Disorders

Volumn 10, Issue 2, 2000, Pages 100-107

  Nowak, K J ^a,b   Walsh, P ^c   Jacob, R L ^d   Johnsen, R D ^d   Peverall, J ^e   McNally, E M ^f   Wilton, S D ^a   Kakulas, B A ^a,d   Laing, N G ^a,d  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b MURDOCH UNIVERSITY   (Australia)

^c PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

^d ROYAL PERTH HOSPITAL   (Australia)

^e KING EDWARD MEMORIAL HOSPITAL   (Australia)

^f Surg Elec Comp Eng Univ I   (United States)

Author keywords

sarcoglycan; Genomic deletion; Missense mutation

Indexed keywords

COMPLEMENTARY DNA; DYSTROPHIN; SARCOGLYCAN; SPECTRIN;

ALLELE; ARTICLE; CASE REPORT; CHILD; CREATINE KINASE BLOOD LEVEL; FAMILY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GIPSY; HAPLOTYPE; HEREDITY; HISTOPATHOLOGY; HUMAN; IMMUNOCYTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; MISSENSE MUTATION; MUSCLE BIOPSY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIBLING; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; CHILD; FEMALE; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MUSCLES; MUSCULAR DYSTROPHIES; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0033958439     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00063-2     Document Type: Article

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