Hereditary spastic paraplegia associated with axonal neuropathy: A novel mutation of SPG3A in a large family

Journal of Clinical Neuromuscular Disease

Volumn 12, Issue 3, 2011, Pages 143-146

  Al Maawali, Almundher ^a   Rolfs, Arndt ^b,c   Klingenhaeger, Michael ^c   Yoon, Grace ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF ROSTOCK   (Germany)

^c CENTOGENE AG   (Germany)

Author keywords

atlastin; axonal neuropathy; hereditary spastic; HSP; paraplegia; SPG3A

Indexed keywords

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DNA ISOLATION; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GIANT AXONAL NEUROPATHY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD;

AGE OF ONSET; CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; POLYMERASE CHAIN REACTION; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 79952164572     PISSN: 15220443     EISSN: 15371611     Source Type: Journal    
DOI: 10.1097/CND.0b013e318209efc6     Document Type: Article

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