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

ABSTRACT: Metabolic myopathies are characterized by the deficiency or dysfunction of essential metabolites or fuels to generate energy for muscle contraction; they most commonly manifest with neuromuscular symptoms due to impaired 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.

SUBMITTER: Angelini C

PROVIDER: S-EPMC10507680 | biostudies-literature | 2022 Sep-Oct

REPOSITORIES: biostudies-literature

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

Angelini Corrado C Burlina Alberto A Blau Nenad N Ferreira Carlos R CR

Molecular genetics and metabolism 20220918 1-2

Metabolic myopathies are characterized by the deficiency or dysfunction of essential metabolites or fuels to generate energy for muscle contraction; they most commonly manifest with neuromuscular symptoms due to impaired 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 metab ...[more]

PMID: 36155185

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