Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy--double trouble as an explanation for an atypical phenotype.

Neuromuscular disorders : NMD - 1 Nov 2008

Rudnik-Schöneborn S, Weis J, Kress W, Häusler M, Zerres K

Abstract excerpt

We report a 12-year-old patient with mental impairment and proximal muscle weakness who had marked involvement of the shoulder girdle and facial muscles. CK levels were above 7000 U/l, multiplex PCR dystrophin gene deletion screening was negative. Further molecular studies revealed shortened D4Z4 fragments in the patient and his asymptomatic father, establishing the diagnosis of facioscapulohumeral muscular...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dystrophin

Share to Muscle Weakness

Share to Muscular Dystrophy, Duchenne

Share to Muscular Dystrophy, Facioscapulohumeral

Share to Phenotype

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 18684626
DOI: 10.1016/j.nmd.2008.06.387

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy--double trouble as an explanation for an atypical phenotype.PMID 18684626Read ↗

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.Semantic proximity Read ↗

Facioscapulohumeral muscular dystrophy and limb-girdle muscular dystrophy: "double trouble" overlapping syndrome?Semantic proximity Read ↗

Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: a clinical and muscle MRI study.Semantic proximity Read ↗

A case of fascioscapulohumeral muscular dystrophy misdiagnosed as Becker's muscular dystrophy for 20 years.Semantic proximity Read ↗

Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I.Semantic proximity Read ↗

Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

Diagnostic challenges in facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

Reducing body myopathy - A new pathogenic FHL1 variant and literature review.Semantic proximity Read ↗

Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?Semantic proximity Read ↗

Early onset facioscapulohumeral muscular dystrophy - Long-term follow-up of a patient with total facial diplegia.Semantic proximity Read ↗

Early-onset facioscapulohumeral muscular dystrophy type 1 with some atypical features.Semantic proximity Read ↗

Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.