Evidence map›Paper›PMID 33458577›Full record

ArticleActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2020

Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports.

Claudia Dosi, Anna Rubegni, Denise Cassandrini, Alessandro Malandrini, Lorenzo Maggi, M Alice Donati, Filippo M Santorelli

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

Article in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 53% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

7 authors at 4 institutions in 1 country.

Claudia DosiIRCCS Fondazione Stella Maris, Pisa, Italy.
Anna RubegniIRCCS Fondazione Stella Maris, Pisa, Italy.
Denise CassandriniIRCCS Fondazione Stella Maris, Pisa, Italy.
Alessandro MalandriniDepartment of Medicine, Surgery and Neurosciences, University of Siena, Italy.
Lorenzo MaggiFondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
M Alice DonatiMetabolic Disease Unit, AOU Meyer Children Hospital, Florence, Italy.
Filippo M SantorelliIRCCS Fondazione Stella Maris, Pisa, Italy.
Fondazione Stella Maris · ITFondazione IRCCS Istituto Neurologico Carlo Besta · ITIstituto Neurologico Mediterraneo · ITUniversity of Siena · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Two patients with a paucisymptomatic hyperckemia underwent a skeletal muscle biopsy and massive gene panel to investigate mutations associated with inherited muscle disorders. In the SGCA gene, sequence analyses revealed a homozygous c.850C > T/p.Arg284Cys in patient 1 and two heterozygous variants (c.739G > A/p.Val247Met and c.850C > T/p.Arg284Cys) in patient 2. Combination of histology and immunofluorence studies showed minimal changes for muscular proteins including the α-sarcoglycan. These two cases highlight the advantages of next-generation sequencing in the differential diagnosis of mild myopathic conditions before considering the more invasive muscle biopsy in sarcoglycanopathies.

Indexed as

AdultCreatine KinaseFemaleHumansMaleMyalgiaSarcoglycanopathiesCreatine KinasehyperCKemiamuscle biopsyNext Generation SequencingSGCA

Identifiers

PMID33458577
PMCPMC7783442
OpenAlexW3124730939

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.