Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case Report.

Eskandar Taghizadeh, Hamed Abdolkarimi, Reza Boostani, Arianeh Sadrnabavi

Open access · greenAbstract readCase Reports

In one paragraph

Article in Iranian journal of public health, 2018. 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

0.2field-weighted citation impact, top 45% 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, 5 citations in OpenAlex.

A novel mutation inPakistan journal of medical sciences · 2024
Article
Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.BMC medical genetics · 2019
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

4 authors at 2 institutions in 1 country.

Eskandar TaghizadehCellular and Molecular Research Center, Yasuj University of Medical Sciences, Yasuj, Iran.

Hamed AbdolkarimiDept. of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.

Reza BoostaniDept. of Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

Arianeh SadrnabaviDept. of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

Mashhad University of Medical Sciences · IRIslamic Azad University, Science and Research Branch · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Limb-girdle muscular dystrophies (LGMDs) are a large group of genetic diseases in which there is muscle weakness and they are heterogonous diseases. The following study conducted in September 2017 in Mashhad, northwest of southern Khorasan Province, Iran reports a four years girl of autosomal recessive LGMD with proximal weakness and myopathy patterns. We detected four new alternations in this patient not reported for our population. One of them was important clinically that exists as unreported homozygous deletion encompassing exon 2 of the Sarcoglycan Beta (

Indexed as

Limb-girdle muscular dystrophyNext-generation sequencingSarcoglycan beta gene

Identifiers

PMID30788312

PMCPMC6379601

OpenAlexW2909380615

What OpenQuestion holds

Textmetadata

LicenceCC BY

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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.