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Volumn 27, Issue 10, 2012, Pages 1348-1350
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Very early onset and severe complicated phenotype caused by a new spastic paraplegia 3A gene mutation
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Author keywords
amyotrophy; neuropathy; pes cavus; spastic paraplegia 3A
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Indexed keywords
DNA;
PEPTIDES AND PROTEINS;
SPASTIC PARAPLEGIA 3A PROTEIN;
UNCLASSIFIED DRUG;
ADOLESCENT;
ARTICLE;
CASE REPORT;
DYSMETRIA;
ELECTRONEUROGRAPHY;
EVOKED RESPONSE;
EXON;
FEMALE;
FOLLOW UP;
GENE MUTATION;
HUMAN;
MUSCLE ATROPHY;
NEUROLOGIC EXAMINATION;
NEUROPATHY;
PARAPLEGIA;
PHENOTYPE;
POLYMERASE CHAIN REACTION;
PRIORITY JOURNAL;
QUADRIPLEGIA;
RESTRICTION FRAGMENT LENGTH POLYMORPHISM;
SPASTIC PARAPLEGIA 3A;
URINARY URGENCY;
ADOLESCENT;
ELECTROPHYSIOLOGY;
FEMALE;
GTP-BINDING PROTEINS;
HUMANS;
MEMBRANE PROTEINS;
MUTATION;
NEURORADIOGRAPHY;
PHENOTYPE;
SPASTIC PARAPLEGIA, HEREDITARY;
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EID: 84866861150
PISSN: 08830738
EISSN: 17088283
Source Type: Journal
DOI: 10.1177/0883073811435245 Document Type: Article |
Times cited : (11)
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References (9)
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