Reduced muscle fiber laminin beta 1

MedGen UID:: 868257
•Concept ID:: C4022649
•: Finding

Synonym:	Reduced muscle fibre laminin beta 1

HPO:	HP:0030094

Definition

A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVReduced muscle fiber laminin beta 1

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 laminin beta 1
        Reduced muscle fiber laminin beta 1

Recent clinical studies

Etiology

Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease.

Auranen M, Rapola J, Pihko H, Haltia M, Leivo I, Soinila S, Virtanen I, Kalimo H, Anderson LV, Santavuori P, Somer H
Neuromuscul Disord 2000 Jan;10(1):16-23. doi: 10.1016/s0960-8966(99)00066-8. PMID: 10677859

See all (1)

Diagnosis

Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles.

Nakamura A, Yoshida K, Ikeda S
Clin Neurol Neurosurg 2004 Mar;106(2):122-8. doi: 10.1016/j.clineuro.2003.10.010. PMID: 15003303

See all (1)

Prognosis

Enhanced expression of the alpha 7 beta 1 integrin reduces muscular dystrophy and restores viability in dystrophic mice.

Burkin DJ, Wallace GQ, Nicol KJ, Kaufman DJ, Kaufman SJ
J Cell Biol 2001 Mar 19;152(6):1207-18. doi: 10.1083/jcb.152.6.1207. PMID: 11257121 Free PMC Article

See all (1)

Clinical prediction guides

Enhanced expression of the alpha 7 beta 1 integrin reduces muscular dystrophy and restores viability in dystrophic mice.

Burkin DJ, Wallace GQ, Nicol KJ, Kaufman DJ, Kaufman SJ
J Cell Biol 2001 Mar 19;152(6):1207-18. doi: 10.1083/jcb.152.6.1207. PMID: 11257121 Free PMC Article

See all (1)

MedGen

National Center for Biotechnology Information

Send to:

Reduced muscle fiber laminin beta 1

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Related information

Recent activity