Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies

被引：11

作者：

Angelini, Corrado ^{[1
]}

Burlina, Alberto ^{[2
]}

Blau, Nenad ^{[3
]}

Ferreira, Carlos R. ^{[4
]}

机构：

[1] Univ Padua, Lab Neuromuscular Dis, Campus Pietro Abano, Padua, Italy

[2] Univ Hosp Padova, Reference Ctr Expanded Newborn Screening, Div Inherited Metab Dis, I-35128 Padua, Italy

[3] Univ Childrens Hosp, Div Metab, Zurich, Switzerland

[4] NIH, Natl Human Genome Res Inst, Bethesda, MD 20892 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2022年 / 137卷 / 1-2期

关键词：

Skeletal muscle; Hypotonia; Weakness; Exercise intolerance; Rhabdomyolysis; PALMITOYLTRANSFERASE-II DEFICIENCY; SYSTEMIC CARNITINE DEFICIENCY; ENZYME REPLACEMENT THERAPY; ACID OXIDATION DISORDERS; LIPID-STORAGE DISEASE; SKELETAL-MUSCLE; POMPE DISEASE; BEZAFIBRATE; MUTATIONS; AUTOPHAGY;

D O I：

10.1016/j.ymgme.2022.09.004

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Metabolic myopathies are characterized by the deficiency or dysfunction of essential metabolites or fuels to gen-erate energy for muscle contraction; they most commonly manifest with neuromuscular symptoms due to im-paired muscle development or functioning. We have summarized associations of signs and symptoms in 358 inherited metabolic diseases presenting with myopathies. This represents the tenth of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.(c) 2022 Elsevier Inc. All rights reserved.

引用

页码：213 / 222

页数：10

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