Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Volumn 14, Issue 7-8, 2013, Pages 628-629

  Rattay, Tim W ^a,b   Schöls, Ludger ^a,b   Wilhelm, Christian ^c   Synofzik, Matthis ^a,b  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^c CEGAT GMBH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; ELECTROMYOGRAPHY; ENZYME ACTIVITY; EXON; FAMILY HISTORY; FEMALE; GENE; GENE DELETION; GENETIC VARIABILITY; HETEROZYGOSITY; HEXB GENE; HUMAN; MEDICAL HISTORY; MISSENSE MUTATION; MUSCLE STRENGTH; MUTATIONAL ANALYSIS; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PARESIS; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPINAL MUSCULAR ATROPHY; WALKING;

BETA-HEXOSAMINIDASE BETA CHAIN; FEMALE; GENE DELETION; HUMANS; MIDDLE AGED; MUSCULAR ATROPHY, SPINAL; SANDHOFF DISEASE;

EID: 84887422542     PISSN: 21678421     EISSN: 21679223     Source Type: Journal    
DOI: 10.3109/21678421.2013.812662     Document Type: Article

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