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Autosomal recessive distal spinal muscular atrophy 2
- ... not show signs and symptoms of the condition. Autosomal recessive distal spinal muscular atrophy 1 DHMN6 Diaphragmatic spinal muscular atrophy Distal hereditary ...
- ... variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically ... myoclonic epilepsy syndrome Spinal muscular ...
- ... those with type I generally have one or two copies, those with type II usually have three copies, those with type III ... Spinal muscular atrophy is inherited in an autosomal recessive pattern, which means both copies of the SMN1 ...
- ... NM Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia Autosomal recessive neuromyotonia and axonal neuropathy Gamstorp-Wohlfart syndrome Myokymia, myotonia, and muscle wasting NMAN Genetic Testing Registry: Autosomal recessive axonal ...