Male hypogonadism in myotonic dystrophy is related to (CTG)n triplet mutation.

doi:10.1007/BF03349005

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Article

Male hypogonadism in myotonic dystrophy is related to (CTG)n triplet mutation.

Journal of endocrinological investigation - 1 May 1994

Mastrogiacomo I, Pagani E, Novelli G, Angelini C, Gennarelli M, Menegazzo E, Bonanni G, Dallapiccola B

Abstract excerpt

The Authors considered the relationship between hypogonadism in myotonic dystrophy (MD) and MT-PK gene mutation. Twenty-seven subjects were studied, and the (CTG)n amplification varied from 70 to 1520 (mean 661 +/- 463). Hypergonadotropic-hypogonadism with LH levels of 6.94 +/- 3.87 and FSH 14.54...

Topics

Adult
Base Sequence
Humans
Hypogonadism
Male
Middle Aged
Molecular Sequence Data
Mutation
Myotonic Dystrophy
Myotonin-Protein Kinase
Protein Kinases
Protein Serine-Threonine Kinases
Repetitive Sequences, Nucleic Acid

Source

Open in PubMed

Identifiers

PMID: 8077624
DOI: 10.1007/BF03349005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8077624-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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