Results 1 -
10
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36
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Distal
- The SLC12A3 gene provides instructions for making a protein known as NCC. This protein is a sodium chloride co-transporter, which means that it moves charged ...
- ... mutations have been found to cause SLC4A1-associated distal renal tubular acidosis, a kidney (renal) disorder that ... dominant and autosomal recessive forms of SLC4A1-associated distal renal tubular acidosis.The SLC4A1 gene mutations involved ...
- ... HSPB1 gene mutations that cause a condition called distal hereditary motor neuropathy, type II, which is characterized ... feet and legs.HSPB1 gene mutations that cause distal hereditary motor neuropathy, type II change single protein ...
- ... gene mutations have been identified in people with distal myopathy, a disorder characterized by weakness and loss ... muscles farthest from the center of the body (distal muscles), such as those of the hands and ...
- ... HSPB8 gene mutations that cause a condition called distal hereditary motor neuropathy, type II. This disorder is ... mutations lead to the signs and symptoms of distal hereditary motor neuropathy, type II. Research suggests that ...
- ... the TPM2 gene have been found to cause distal arthrogryposis type 1, a disorder characterized by joint ... these mutations lead to contractures in people with distal arthrogryposis type 1, or why the joint problems ...
- ... gene mutations have been identified in people with distal hereditary motor neuropathy, type V, a progressive disorder ... It is unclear how BSCL2 gene mutations cause distal hereditary motor neuropathy, type V. These genetic changes ...
- ... D, Haque SK. Genetic causes and mechanisms of distal renal tubular acidosis. Nephrol Dial Transplant. 2012 Oct; ... Alvarez MV, Ordonez FA, Malaga S, Coto E. Distal RTA with nerve deafness: clinical spectrum and mutational ...
- ... this gene, the condition is also known as distal anoctaminopathy. Miyoshi myopathy is a muscle disorder that ... are away from the center of the body (distal muscles), particularly those in the legs. The ANO5 ...
- ... mutation that causes a nervous system disorder called distal hereditary motor neuronopathy type VIIB. Signs and symptoms ... G59S). It is unclear how this mutation causes distal hereditary motor neuronopathy type VIIB. The altered protein ...
