U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Gene

Myostatin-related muscle hypertrophy(MSLHP)

MedGen UID:
418994
Concept ID:
C2931112
Congenital Abnormality
Synonyms: MSLHP; Muscle hypertrophy
SNOMED CT: Muscle hypertrophy syndrome (699185005); Myostatin related hypertrophy of muscle (699185005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): MSTN (2q32.2)
 
Monarch Initiative: MONDO:0013598
OMIM®: 614160
Orphanet: ORPHA275534

Definition

Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. Myostatin-related muscle hypertrophy is not known to cause any medical problems, and affected individuals are intellectually normal. [from MedlinePlus Genetics]

Clinical features

From HPO
Brisk reflexes
MedGen UID:
382164
Concept ID:
C2673700
Finding
Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
Skeletal muscle hypertrophy
MedGen UID:
853739
Concept ID:
C2265792
Finding
Abnormal increase in muscle size and mass not due to training.

Recent clinical studies

Etiology

Tobias IS, Galpin AJ
Am J Physiol Cell Physiol 2020 Nov 1;319(5):C858-C876. Epub 2020 Aug 12 doi: 10.1152/ajpcell.00107.2020. PMID: 32783659
Nikooie R, Jafari-Sardoie S, Sheibani V, Nejadvaziri Chatroudi A
J Cell Physiol 2020 Jul;235(7-8):5649-5665. Epub 2020 Jan 21 doi: 10.1002/jcp.29497. PMID: 31960436
Eade EL, Hardy TG, McKelvie PA, McNab AA
Br J Ophthalmol 2018 Nov;102(11):1586-1590. Epub 2018 Jan 19 doi: 10.1136/bjophthalmol-2017-311147. PMID: 29352070

Diagnosis

Tobias IS, Galpin AJ
Am J Physiol Cell Physiol 2020 Nov 1;319(5):C858-C876. Epub 2020 Aug 12 doi: 10.1152/ajpcell.00107.2020. PMID: 32783659
Eade EL, Hardy TG, McKelvie PA, McNab AA
Br J Ophthalmol 2018 Nov;102(11):1586-1590. Epub 2018 Jan 19 doi: 10.1136/bjophthalmol-2017-311147. PMID: 29352070

Therapy

Nikooie R, Jafari-Sardoie S, Sheibani V, Nejadvaziri Chatroudi A
J Cell Physiol 2020 Jul;235(7-8):5649-5665. Epub 2020 Jan 21 doi: 10.1002/jcp.29497. PMID: 31960436
Šinkūnaitė L, Burbaud P, Soulages A, Vergnet S, Duval F, Solé G, Tang HM, Le Masson G, Mathis S
Muscle Nerve 2018 Nov;58(5):E36-E39. Epub 2018 Sep 7 doi: 10.1002/mus.26185. PMID: 30152094

Prognosis

Eade EL, Hardy TG, McKelvie PA, McNab AA
Br J Ophthalmol 2018 Nov;102(11):1586-1590. Epub 2018 Jan 19 doi: 10.1136/bjophthalmol-2017-311147. PMID: 29352070

Clinical prediction guides

Eade EL, Hardy TG, McKelvie PA, McNab AA
Br J Ophthalmol 2018 Nov;102(11):1586-1590. Epub 2018 Jan 19 doi: 10.1136/bjophthalmol-2017-311147. PMID: 29352070
Barbé C, Bray F, Gueugneau M, Devassine S, Lause P, Tokarski C, Rolando C, Thissen JP
J Proteome Res 2017 Oct 6;16(10):3477-3490. Epub 2017 Sep 7 doi: 10.1021/acs.jproteome.7b00069. PMID: 28810121
Lima JG, Nobrega LHC, Lima NN, Dos Santos MCF, Baracho MFP, Winzenrieth R, Bandeira F, Mendes-Aguiar CO, Neto FPF, Ferreira LC, Rosen CJ, Jeronimo SMB
Bone 2017 Aug;101:21-25. Epub 2017 Apr 6 doi: 10.1016/j.bone.2017.03.053. PMID: 28390904Free PMC Article
Salzler RR, Shah D, Doré A, Bauerlein R, Miloscio L, Latres E, Papadopoulos NJ, Olson WC, MacDonald D, Duan X
Proteomics 2016 Jul;16(14):2019-27. doi: 10.1002/pmic.201600006. PMID: 27214824

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...