Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

Neuromuscular Disorders

Volumn 24, Issue 4, 2014, Pages 353-359

  Monies, Dorota M ^a,b   Al Hindi, Hindi N ^a,b   Al Muhaizea, Mohamed A ^a,b   Jaroudi, Dyala J ^a,b   Al Younes, Banan ^a,b   Naim, Ewa A ^a,b   Wakil, Salma M ^a,b   Meyer, Brian F ^a,b   Bohlega, Saeed ^a,b  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING ABDULAZIZ CITY FOR SCIENCE AND TECHNOLOGY   (Saudi Arabia)

Author keywords

Congenital disorder of glycosylation; Myasthenia; Myopathy

Indexed keywords

ADULT; ALG2 GENE; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL MYASTHENIC SYNDROME; CONSANGUINITY; DISEASE COURSE; DISEASE SEVERITY; FEMALE; FIRST DEGREE RELATIVE; GENE; GENE MAPPING; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; HUMAN TISSUE; INDEL MUTATION; MALE; MITOCHONDRIAL MYOPATHY; MITOCHONDRION; MUSCLE BIOPSY; MUSCLE WEAKNESS; NERVE STIMULATION; NEUROMUSCULAR SYNAPSE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SARCOMERE; SAUDI ARABIA; ADOLESCENT; DIFFERENTIAL DIAGNOSIS; FAMILY; GENETICS; GLYCOSYLATION; METABOLISM, INBORN ERRORS; MUSCLE FIBRIL; MUSCULAR DISEASES; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE;

APOPTOSIS REGULATORY PROTEIN; CALCIUM BINDING PROTEIN; PDCD6 PROTEIN, HUMAN;

ADOLESCENT; ADULT; APOPTOSIS REGULATORY PROTEINS; CALCIUM-BINDING PROTEINS; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GLYCOSYLATION; HUMANS; MALE; METABOLISM, INBORN ERRORS; MUSCULAR DISEASES; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; MYOFIBRILS; PEDIGREE; PHENOTYPE;

EID: 84895803209     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.12.010     Document Type: Article

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