LGMD2L with bone affection: Overlapping phenotype of dominant and recessive ANO5-induced disease

Muscle and Nerve

Volumn 46, Issue 5, 2012, Pages 829-830

  Witting, Nanna ^a   Duno, Morten ^a   Born, Alfred Peter ^a   Vissing, John ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ANOCTAMIN 5; CREATINE KINASE; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ADULT; CASE REPORT; CREATINE KINASE BLOOD LEVEL; FACE MALFORMATION; FACIAL NERVE PARALYSIS; GENOTYPE; HETEROZYGOTE; HUMAN; JAW MALFORMATION; LETTER; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL;

BONE DISEASES, DEVELOPMENTAL; CHLORIDE CHANNELS; CREATINE KINASE; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; MALE; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; PHENOTYPE; YOUNG ADULT;

EID: 84867391610     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.23440     Document Type: Letter

References (8)

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