Early-onset CMT1B due to the MPZ mutation c.320A>T associated with collateral inclusion body myopathy and Deafness
Josef Finsterer, Christine Haberler & Michaela Auer-Grumbach · Journal of Advances in Medicine and Medical Research · 2013
Aims: To present the case of a patient with early-onset demyelinating neuropathy due to a MPZ-mutation, associated with deafness and inclusion-body-myopathy. Methods: Nerve conduction studies, electromyography, muscle biopsy, genetic testing. Results and Discussion: In a 46yo mal...
Open access
Research Article
10.9734/BJMMR/2013/2944