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

Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update.

Indian journal of pathology & microbiology - 1 May 2022

Narasimhaiah Deepti, Uppin Megha S, Ranganath Prajnya

Abstract excerpt

Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration. Congenital muscular dystrophies (CMD) include dystroglycanopathies, merosin-deficient CMD, collagen VI-deficient CMD, SELENON-related rigid spine muscular dystrophy, and LMNA-related CMD. Childhood and...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Genetic Testing
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle, Skeletal

Share to Muscular Dystrophies

Share to Mutation

Share to Pregnancy

Source

Identifiers

PMID: 35562158
DOI: 10.4103/ijpm.ijpm_1074_21

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update.PMID 35562158Read ↗

An update on diagnostic options and considerations in limb-girdle dystrophies.Semantic proximity Read ↗

Muscular dystrophies: histology, immunohistochemistry, molecular genetics and management.Semantic proximity Read ↗

Congenital muscular dystrophies: a brief review.Semantic proximity Read ↗

The Muscular DystrophiesSemantic proximity Read ↗

Congenital Muscular Dystrophies and Myopathies: An Overview and UpdateSemantic proximity Read ↗

EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disordersSemantic proximity Read ↗

The Role of Muscle Biopsy in the Era of Modern Genomic Medicine – A ReviewSemantic proximity Read ↗

Inherited myopathies and muscular dystrophies.Semantic proximity Read ↗

Guidelines for genetic testing of muscle and neuromuscular junction disorders.Semantic proximity Read ↗

Differential diagnosis of congenital muscular dystrophies.Semantic proximity Read ↗

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision MedicineSemantic proximity Read ↗

Challenges and Advances in Molecular Diagnosis of Myopathies and Dystrophies in Perspective of Their Use in Developing Countries: Past, Present, and Future.Semantic proximity Read ↗

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