A Case of Schwartz-Jampel Syndrome with Unusual Muscle Biopsy Findings
Ann Neurol 3:93, Fariello,R.,et al, 1978
A 40-Year-Old Woman Presenting with Distal Leg Weakness
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006
Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992