A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations.

Pubmed ID: 
22357363
Year: 
2012
Month: 
MAY
Volume: 
22
Issue: 
5
Citation: 
McKelvie P, Marotta R, Thorburn DR, Chin J, Punchihewa S, Collins S. A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations. Neuromuscular disorders : NMD 22 (5) : 401 - 5(2012) PubMed