Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary muscle diseases

Hereditary muscle disease includes both functional and morphological alterations of the muscle system.

Systematic

Hereditary musculoskeletal diseases
Hereditary bone disease
Hereditary muscle diseases
Inclusion body myopathy 2
GNE
Nonaka myopathy
GNE
Polyglucosan body myopathy type 1
RBCK1
Inborn skeletal malformations
Short stature

References:

1.

None (2015) Skeletal Dysplasias: An Overview.

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2.

Huegel J et al. (2013) Heparan sulfate in skeletal development, growth, and pathology: the case of hereditary multiple exostoses.

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3.

Nishimura G et al. (2012) TRPV4-associated skeletal dysplasias.

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Update: May 7, 2019