Population
4 patients and 1 female carrier of X-linked myopathy with excessive autophagy
Design
Case_series
Authors
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May aid differentiation in limb-girdle myopathies; hypothesis-generating from single case and leaves broader validation open.
Specific electrophysiological findings, including polyphasic motor units and abundant myotonic discharges, can help distinguish X-linked myopathy with excessive autophagy from other limb-girdle myopathies.
Jääskeläinen et al. (2002) studied this question.
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