Abnormal muscle fiber emerin

MedGen UID:: 868237
•Concept ID:: C4022629
•: Anatomical Abnormality

Synonym:	Abnormal muscle fibre emerin

HPO:	HP:0030116

Definition

A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal muscle fiber emerin

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the musculature
    - Abnormal skeletal muscle morphology
      - Abnormal muscle fiber morphology
        Abnormal muscle fiber protein expression
        Abnormal muscle fiber emerin
        Absent muscle fiber emerin
        Reduced muscle fiber emerin

Recent clinical studies

Diagnosis

Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.

Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F
Neuropathol Appl Neurobiol 2001 Aug;27(4):281-90. doi: 10.1046/j.0305-1846.2001.00323.x. PMID: 11532159

See all (1)

Clinical prediction guides

The origin of tubular aggregates in human myopathies.

Chevessier F, Bauché-Godard S, Leroy JP, Koenig J, Paturneau-Jouas M, Eymard B, Hantaï D, Verdière-Sahuqué M
J Pathol 2005 Nov;207(3):313-23. doi: 10.1002/path.1832. PMID: 16178054

Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.

Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F
Neuropathol Appl Neurobiol 2001 Aug;27(4):281-90. doi: 10.1046/j.0305-1846.2001.00323.x. PMID: 11532159

See all (2)

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Abnormal muscle fiber emerin

Definition

Term Hierarchy

Recent clinical studies

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Recent activity