Pongratz D, Hübner G
Monatsschr Kinderheilkd. 1984 Aug;132(8):574-80.
While muscular lesions in endocrine or metabolic diseases are fairly common primary metabolic myopathies are rare. In these, the metabolic fault is in the muscle fibre itself, which takes on a vacuolated appearance. In the majority of these myopathies there is an abnormality of the glycogen or fat metabolism due to the absence of a specific enzyme in most cases. By contrast, the pathogenesis of the so called mitochondrial myopathies is not yet well understood.
虽然内分泌或代谢性疾病中的肌肉病变相当常见,但原发性代谢性肌病却很罕见。在这些疾病中,代谢缺陷存在于肌纤维本身,肌纤维会呈现出空泡状外观。在大多数这类肌病中,由于大多数情况下缺乏特定酶,糖原或脂肪代谢存在异常。相比之下,所谓线粒体肌病的发病机制尚未完全明确。