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Myopathy, granulovacuolar lobular, with electrical myotonia

MedGen UID:
338114
Concept ID:
C1850745
Disease or Syndrome
Synonyms: Myopathy, Granulovacuolar Lobular, with Electrical Myotonia
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 254950

Clinical features

Myotonia
MedGen UID:
10238
Concept ID:
C0027125
Finding
An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
A reduction in the strength of one or more muscles.
Skeletal muscle atrophy
MedGen UID:
902598
Concept ID:
C0234958
Disease or Syndrome
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Recent clinical studies

Diagnosis

Juguilon A, Chad D, Bradley WG, Adelman L, Kelemen J, Bosch P, Munsat TL
J Neurol Sci 1982 Nov;56(2-3):133-40. PMID: 6294254

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