Objective-To characterise the main clinical phenotypes of debrancher deficiency myopathy and to increase awareness for this probably underdiagnosed disorder. Methods-The diagnosis of debrancher deficiency was established by laboratory tests, EMG, and muscle and liver biopsy. Results-Four patients with debrancher deficiency myopathy were identified in the Tyrol, a federal state of Austria with half a million inhabitants. Clinical appearance was highly variable. The following phenotypes were diVerentiated: (1) adult onset distal myopathy; (2) subacute myopathy of the respiratory muscles; (3) severe generalised myopathy; and (4) minimal variant myopathy. Exercise intolerance was uncommon. The clinical course was complicated by advanced liver dysfunction in two patients and by severe cardiomyopathy in one. All had raised creatine kinase concentrations (263 to 810 U/l), myogenic and neurogenic features on EMG, and markedly decreased debrancher enzyme activities in muscle or liver biopsy specimens. The findings were substantiated by a review of 79 previously published cases with neuromuscular debrancher deficiency. Conclusions-This study illustrates the heterogeneity of neuromuscular manifestations in debrancher deficiency. Based on the clinical appearance, age at onset, and course of disease four phenotypes may be defined which diVer in prognosis, frequency of complications, and response to therapy. (J Neurol Neurosurg Psychiatry 1999;67:364-368)

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A 43‐year‐old woman with recently diagnosed primary biliary cirrhosis developed antibody‐negative myasthenia gravis. She did not receive D‐penicillamine therapy. Clinical and immunological features of this patient are discussed. In previous reports on an association between primary biliary cirrhosis and myasthenia D‐penicillamine treatment was an obligate causal linkage between both disorders.