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Autosomal recessive axonal hereditary motor sensory neuropathy
- ... CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L; CMT2L HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; HMSN2C CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; CMT2I ...
- ... M, Saraiva Phd J, Negrao L, Fineza I. Autosomal recessive axonal neuropathy ... a cause of distal hereditary motor neuropathy. Eur J Hum Genet. 2014 Jun;22( ...
- ... the HINT1 gene have been found to cause autosomal recessive axonal neuropathy with neuromyotonia. This neurological condition affects the peripheral nerves, which connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch. People ...
- Charcot-Marie-Tooth Disease/Start Here ... Charcot-Marie-Tooth Disease ... National Institute of Neurological Disorders and Stroke ... Charcot-Marie-Tooth disease (CMT) ...
- ... include impaired vision. (This variant is also called hereditary motor and sensory neuropathy VI.) Vision loss is caused by the breakdown ... mitochondrial assembly regulatory factor Tests of MFN2 PubMed NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A MITOFUSIN 2; ...
(National Institute of Neurological Disorders and Stroke) 