Evidence map›Paper›PMID 24530477›Full record

ArticleGene2014

Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.

Samira Ismail, Ashleigh E Schaffer, Rasim O Rosti, Joseph G Gleeson, Maha S Zaki

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Gene, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 41% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 3 institutions in 2 countries.

Samira IsmailClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
Ashleigh E SchafferHoward Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Rasim O RostiHoward Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Joseph G GleesonHoward Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt. Electronic address: dr_mahazaki@yahoo.com.
National Research Centre · EGUniversity of California, San Diego · USHoward Hughes Medical Institute · US

Funding

Molecular Mechanisms of Intellectual DisabilityK99HD082337 · NICHD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SCHAFFER, ASHLEIGH E · 2015 to 2016
$268k
NICHD NIH HHS K99 HD082337
6 · The paper itself

Abstract

Fukuyama-type congenital muscular dystrophy (FCMD, MIM#253800) is an autosomal recessive disorder characterized by severe muscular dystrophy associated with brain malformations. FCMD is the second most common form of muscular dystrophy after Duchenne muscular dystrophy and one of the most common autosomal recessive diseases among the Japanese population, and yet few patients outside of Japan had been reported with this disorder. We report the first known Egyptian patient with FCMD, established by clinical features of generalized weakness, pseudohypertrophy of calf muscles, progressive joint contractures, severe scoliosis, elevated serum creatine kinase level, myopathic electrodiagnostic changes, brain MRI with cobblestone complex, and mutation in the fukutin gene. In addition, our patient displayed primary microcephaly, not previously reported associated with fukutin mutations. Our results expand the geographic and clinical spectrum of fukutin mutations.

Indexed as

Child, PreschoolFemaleHumansMembrane ProteinsMicrocephalyMutationPrognosisWalker-Warburg SyndromeFKTN protein, humanMembrane ProteinsCobblestone lissencephalyCongenital muscular dystrophyDystroglycanopathyFukutin

Identifiers

PMID24530477
PMCPMC5226855
OpenAlexW1981949475

What OpenQuestion holds

Textmetadata
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Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.