Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 17/07/13
Symbol SPG43
Location 19q12
HGNC id 35198
Name spastic paraplegia 43 autosomal recessive
Corresponding gene C19orf12
Other symbol(s) DKFZP762D096, MGC10922, NBIA4
Main clinical features
  • complicated hereditary spastic paraplegias with distal amyotrophy, progressive spasticity and weakness of the lower limbs, and atrophy of the distal upper extremities PMID:20039086
  • onset in infancy, progressive spastic paraplegia with atrophy of intrinsic hand muscles and dysarthria
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name chromosome 19 open reading frame 12
    Gene mutationChromosome rearrangementEffectComments
    missense     c.187G>C; p.Ala63Pro PMID:23857908