Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan ( DAG1 ), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only [...] [a.k.a. [string-db.org]

(PMID: 24556084) von Renesse A … Schuelke M (Journal of medical genetics 2014) 3 4 60 POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. [genecards.org]

Colour plates and line drawings are present throughout along with tables of key information. [books.google.com]

Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. [ghr.nlm.nih.gov]

Two necrotic myofibers are present in the center of this image. [emedicine.medscape.com]

• Difficulty Climbing Stairs

  climbing stairs EMG: myopathic abnormalities Congenital muscular dystrophy Spinal rigidity Cardiomyopathy Toe walking Motor delay Scapular winging Trophic changes related to pain Dilated cardiomyopathy Slow progression Respiratory insufficiency Kyphosis [mendelian.co]

  Symptoms INHERITANCE: Autosomal recessive MUSCLE, SOFT TISSUE: Muscular dystrophy; Neonatal hypotonia; Muscle weakness, proximal; Gower sign; Difficulty climbing stairs; Calf pseudohypertrophy; Dystrophic changes seen on skeletal muscle biopsy NEUROLOGIC [findzebra.com]

• Strabismus

  Ataxia Growth delay Cerebellar atrophy Cataract Spasticity Hepatomegaly Progressive proximal muscle weakness Apraxia Impulsivity Adrenal insufficiency CNS hypomyelination Amblyopia Truncal ataxia Lower limb spasticity Generalized seizures Athetosis Strabismus [mendelian.co]

  […] cysts 614561 616663 Autosomal recessive SNRPB 20p13 Cerebrocostomandibular syndrome 117650 182282 Autosomal dominant SNTA1 20q11.21 Long QT syndrome 12 612955 601017 Autosomal dominant SOBP 6q21 Mental retardation, anterior maxillary protrusion, and strabismus [mnglabs.com]

• Proximal Muscle Weakness

  Limb muscle weakness Lower limb muscle weakness Pica Supraventricular arrhythmia Congestive heart failure Centrally nucleated skeletal muscle fibers Proximal upper limb amyotrophy Absent muscle fiber emerin Decreased cervical spine flexion due to contractures [mendelian.co]

  The main symptoms comprised infrequent hip cramps triggered by flexion, neck cramps triggered by yawning, transient growing pains, calf hypertrophy and mild proximal muscle weakness. [diva-portal.org]

  Proximal muscles showed a less severe weakness and wasting. The condition was present at birth and showed little progression. [findzebra.com]

• Pseudohypertrophy of Calf Muscles

  […] weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. [monarchinitiative.org]

• Hyporeflexia

  The older sister, aged 25 years, had proximal weakness, calf pseudohypertrophy, hyporeflexia, mild facial weakness, and Gowers sign. [findzebra.com]

  […] blindness Abnormality of color vision Hypokalemia Intestinal pseudo-obstruction Exercise intolerance Abnormality of the eye Abnormal electroretinogram Intellectual disability, mild Vertigo Diplopia Abnormal lip morphology Increased connective tissue Hyporeflexia [mendelian.co]

• Gowers Sign

  The older sister, aged 25 years, had proximal weakness, calf pseudohypertrophy, hyporeflexia, mild facial weakness, and Gowers sign. [findzebra.com]

  […] climbing stairs EMG: myopathic abnormalities Congenital muscular dystrophy Spinal rigidity Cardiomyopathy Toe walking Motor delay Scapular winging Trophic changes related to pain Dilated cardiomyopathy Slow progression Respiratory insufficiency Kyphosis Gowers [mendelian.co]

Extensive clinical workup was performed and MRI at time of initial presentation demonstrated no significant muscular atrophy with heterogenous STIR hyperintensity of the lower extremity muscles. [read.qxmd.com]

• Trichinella Spiralis

  spiralis DAG1 - annotation not available Tupaia chinensis DAG1 - Dystroglycan Tursiops truncatus DAG1 - The sequence of the model RefSeq protein was modified relative to its source genomic sequence to represent the inferred complete CDS: deleted 1 base [string-db.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Thus, to facilitate fast diagnosis, treatment development, and treatment monitoring, sensitive detection of CDP-ribitol is required. METHODS: An LC-MS method was optimized for CDP-ribitol in human and mice cells and tissues... [read.qxmd.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

The prognosis is very poor. Last update: July 2006 This syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked. [findzebra.com]

The etiology of many of these disorders and a more pathogenetic classification is evolving. Duchenne and Becker dystrophies are now classified as dystrophinopathies, because they are caused by mutations in the gene for the protein dystrophin. [emedicine.medscape.com]

A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies. Can J Neurol Sci. 2016; 43(1):163-77. PMID: 26786644 Lemmers, RJ, et al. [invitae.com]

We aimed to characterize epidemiological, clinical and molecular data of patients with autosomal recessive LGMD2/LGMD-R in Brazil. [read.qxmd.com]

[…] mortality in these patients since progressive respiratory failure—the former number one cause of death—can be better managed due to advances in respiratory therapy today. w3 w4 Hence, cardiologists should be familiar with the distinctiveness of cardiac pathophysiology [pmj.bmj.com]

Pathophysiology Hypervitaminosis A occurs when the maximum limit for liver stores of retinoids is exceeded. The excess vitamin A enters the circulation causing systemic toxicity. The U.S. [findzebra.com]

The pathophysiological role of calpain-3 is not exactly known. Immunohistochemical (IHC) analysis of calpainopathy is still not possible as there is no anti-calpain-3 antibody available that is compatible for IHC on muscle biopsy cryosections. [neurologyindia.com]