Charcot-Marie Tooth Disease Cell Biology
New charcot-marie tooth disease cell biology research from Queen's Hospital, Department of Neurology discussed
Published in Hospital Law Weekly, February 14th, 2008
New research, 'POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease,' is the subject of a report. According to recent research from Romford, the United Kingdom, "Although a molecular diagnosis is possible in most patients having Charcot-Marie-Tooth disease (CMT), recessively inherited and axonal neuropathies still present a diagnostic challenge. To determine the cause of axonal CMT type 2 in 3 siblings. Case report. Academic research."
"Three siblings who subsequently developed profound cerebellar ataxia. Muscle biopsy specimen molecular genetic analysis of the POLG1 (polymerase gamma-1) gene, as well as screening of control subjects for...
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Source: Hospital Law Weekly (2008-02-14)
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