nemaline


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nemaline

/nem·a·line/ (nem´ah-lēn) threadlike or rod-shaped.
References in periodicals archive ?
Greyson is a six year old that has been diagnosed with Nemaline Myopathy.
the brave Ridgeway High School pupil has been raising thousands for three causes close to her heart: Muscular Dystrophy UK, The Clatterbridge Cancer Charity and the Nemaline Myopathy Support Group.
The twins were soon diagnosed with an extremely rare muscular disorder, Nemaline Myopathy, and just seven months later, baby Theo lost his battle for life.
One biopsy showed rare nemaline rod formation, highlighted on the Gomori trichrome stain.
cystic fibrosis, fragile X syndrome and spinal muscular atrophy), tests for hemoglobinopathies (sickle cell anemia, alpha thalassemia and beta thalassemia) and routine tests for the Ashkenazi Jewish population, Good Start now offers the following additional tests: dihydrolipoamide dehydrogenase deficiency, familial hyperinsulinism, glycogen storage disease type 1a, Joubert syndrome 2, maple syrup urine diseases type A/B, nemaline myopathy, Usher syndrome type 1F, Usher syndrome type III, and Walker-Warburg syndrome.
net 1,2,3,4,6,8 NASAL ENCEPHALOCELE See: Craniofacial Disorders NEMALINE MYOPATHY See: Muscular Dystrophy NEPHRITIS See: Kidney Diseases, Hereditary, Fetal Alcohol Syndrome NEUROFIBROMATOSIS See also: Acoustic Neuroma; Hearing Impairments; Visual Impairments Learning Disabilities National Neurofibromatosis Foundation John Radziejewski Director of Public Education 95 Pine St.
Pathologic Diagnosis: Congenital Nemaline Rod Myopathy
These diseases range from the more familiar Tay-Sachs disease to lesser-known diseases such as Walker-Warburg Syndrome and Nemaline Myopathy.
Other Myopathies This group of unrelated genetic muscle disorders (such as central core disease, nemaline myopathy, myotubular myopathy and mitochondrial myopathy) may cause diffuse weakness, some skeletal defomities and progressive muscle wasting, among other symptoms.
com 1,2,3,4,5,6,8,9 NASAL ENCEPHALOCELE See: Craniofacial Disorders NEMALINE MYOPATHY See: Muscular Dystrophy NEPHRITIS See: Kidney Diseases, Hereditary, Fetal Alcohol Syndrome NEUROFIBROMATOSIS See also: Acoustic Neuroma; Hearing Impairments; Visual Impairments National Neurofibromatosis Foundation 95 Pine St.
com 1,2,3,4,5,6,8,9 NASAL ENCEPHALOCELE See: Craniofacial Disorders NEMALINE MYOPATHY See: Muscular Dystrophy NEPHRITIS See: Kidney Diseases, Hereditary Neurodevelopmental Abnormalities, Fetal Alcohol Syndrome NEUROFIBROMATOSIS See also: Acoustic Neuroma; Hearing Impairments; Visual Impairments National Neurofibromatosis Foundation 95 Pine St.
Our son has a neuromuscular disease, called nemaline myopathy, which is a rare form of muscular dystrophy.