25,729 articles
Charcot-Marie-Tooth disease type 2R
CMT2R (Charcot-Marie-Tooth disease type 2R, OMIM 615490) is an ultra-rare autosomal recessive axonal neuropathy caused by TRIM2 loss-of-function mutations, with infantile-onset hypotonia, weakness, areflexia, and vocal cord paralysis; no condition-specific treatment trial exists.
Charcot-Marie-Tooth disease type 2S
CMT2S (Charcot-Marie-Tooth disease type 2S, ORPHA:443073) is a rare autosomal recessive axonal neuropathy caused by IGHMBP2 mutations, first described in 2014, with distal weakness, areflexia, mild sensory loss, and the milder phenotype compared with SMARD1.
Charcot-Marie-Tooth disease type 2T
Charcot-Marie-Tooth disease type 2T (CMT2T, AR-CMT2T, OMIM 617017) is a rare autosomal recessive axonal neuropathy caused by biallelic MME (neprilysin) variants, with adult onset around 45 years, distal leg weakness, and preserved ambulation.
Charcot-Marie-Tooth disease type 4A
CMT4A (GDAP1-related CMT, OMIM 214400) is an autosomal recessive Charcot-Marie-Tooth subtype caused by GDAP1 mutations on chromosome 8q21.1, with early-onset severe demyelinating, axonal, or intermediate neuropathy, vocal cord paresis, and rapid progression to walking aids or wheelchair use.
Charcot-Marie-Tooth disease type 4B1
CMT4B1 (Charcot-Marie-Tooth disease type 4B1, MTMR2-related CMT4) is an ultrarare recessive demyelinating neuropathy with myelin outfoldings, childhood onset, faster progression than CMT4B2, and AAV9 gene therapy in development.
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B2 (CMT4B2, OMIM 604563) is a rare autosomal recessive demyelinating neuropathy caused by SBF2/MTMR13 mutations on 11p15, with childhood onset, focally folded myelin, and early-onset glaucoma.
Charcot-Marie-Tooth disease type 4B3
CMT4B3 (Charcot-Marie-Tooth disease with focally folded myelin, ORPHA:363981) is an ultra-rare autosomal recessive CMT4 subtype caused by SBF1/MTMR5 mutations on chromosome 22q13.33, with childhood-onset neuropathy, conduction velocities under 38 m/s, and folded myelin on biopsy.
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4C (CMT4C, SH3TC2-HMSN) is an autosomal recessive demyelinating neuropathy caused by biallelic SH3TC2 variants, marked by early severe scoliosis, foot deformities, hearing loss, and demyelinating nerve conduction velocities.
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4D (CMT4D, HMSN-Lom) is an autosomal recessive demyelinating neuropathy caused by NDRG1 mutations, chiefly the Roma founder p.Arg148 allele, with childhood-onset weakness, foot deformities, and deafness by the third decade.
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4E (CMT4E, congenital hypomyelinating neuropathy 1) is a rare autosomal recessive demyelinating neuropathy caused by EGR2 (Krox20) mutations on 10q21.3, presenting at birth with hypotonia, areflexia, distal weakness, and nerve conduction velocities often below 10 m/s.
Charcot-Marie-Tooth disease type 4F
CMT4F (Charcot-Marie-Tooth disease type 4F, OMIM 614895) is a rare severe autosomal recessive demyelinating neuropathy caused by PRX (periaxin) mutations on 19q13.2, with childhood onset, severe sensory loss, sensory ataxia, and slow nerve conduction; distinct from FIG4-related CMT4J.
Charcot-Marie-Tooth disease type 4G
Charcot-Marie-Tooth disease type 4G, also known as hereditary motor and sensory neuropathy, Russe type, is an autosomal recessive demyelinating neuropathy caused by HK1 mutations and reported mainly in European Roma communities.
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4H (CMT4H, OMIM 609311) is a rare autosomal recessive demyelinating neuropathy beginning before age 2, caused by FGD4/frabin mutations on chromosome 12, with areflexia, scoliosis, and severely slowed nerve conduction.
Charcot-Marie-Tooth disease type 4J
CMT4J (Charcot-Marie-Tooth disease type 4J) is an ultra-rare autosomal recessive neuropathy from FIG4 gene mutations, causing asymmetric weakness and demyelination; an AAV9 gene therapy, ELP-02, entered a first-in-human trial in 2026.
Charcot–Marie–Tooth disease
Charcot–Marie–Tooth disease (CMT), or hereditary motor and sensory neuropathy, is the most common inherited peripheral neuropathy, prevalence about 1 in 2,500. Major genes PMP22, MPZ, MFN2, GJB1; no cure, only rehabilitation, orthotics, and surgery.
Charing Cross Hospital
Charing Cross Hospital is an NHS acute teaching hospital in Hammersmith, London, run by Imperial College Healthcare NHS Trust. Founded 1818 by Benjamin Golding as the West London Infirmary, renamed 1827, moved to Fulham Palace Road 1973; CQC overall rating Good.
CHARISMA study
CHARISMA (NCT03793998) is an Italian multicenter prospective observational registry of real-world catheter ablation of cardiac arrhythmias using high-density mapping, sponsored by Azienda Ospedaliera Pugliese Ciaccio, with about 2000 planned enrollments and substudies on local impedance, cryoballoon, and ultra-high-density mapping.
Charité
Charité – Universitätsmedizin Berlin, founded 1710 as a plague house and named 1727 by Friedrich Wilhelm I, is Europe's largest university hospital, joint institution of Humboldt and Free Universities, with four campuses, the BIH, and the DHZC.
Charles A. McCallum
Charles A. McCallum, also known as Charles Alexander McCallum Jr., was an American oral and maxillofacial surgeon who served as the third president of the University of Alabama at Birmingham from 1987 to 1993.
Charles Alfred Ballance
Charles Alfred Ballance (1856–1936) was a British surgeon at St Thomas's Hospital who performed the first removal of a cerebellopontine angle tumor in 1894 and the first facial nerve crossover anastomosis in 1895.
Charles Atlas
Charles Atlas (Angelo Siciliano, 1892-1972), Italian-American bodybuilder named the World's Most Perfectly Developed Man in 1922, who sold the Dynamic Tension mail-order course to millions via the famous 97-pound weakling comic-book ads.
Charles B. Hammond
Charles B. Hammond (1936–2021) was an American gynecologic oncologist and reproductive endocrinologist at Duke University, known for pioneering chemotherapy treatment of gestational trophoblastic disease and chairing Duke's obstetrics department.
Charles B. Wilson
Charles B. Wilson, also known as Charles Byron Wilson (1929–2018), was an American neurosurgeon who founded UCSF's Department of Neurological Surgery and performed more than 3,300 transsphenoidal pituitary operations.
Charles C. Sprague
Charles C. Sprague, also known as Charles Cameron Sprague, was an American hematologist and the first President of UT Southwestern Medical Center, serving from 1972 to 1986.
Charles Clayton Dennie
Charles Clayton Dennie (1883–1971) was an American dermatologist and syphilologist in Kansas City, Missouri, who founded one of the first free clinics for congenital syphilis and gave his name to the Dennie-Morgan fold and Dennie-Marfan syndrome.
Charles E. Putman
Charles E. Putman was an American thoracic radiologist who chaired Duke University's radiology department from 1977 and was elected to the Institute of Medicine in 1987.
Charles Horace Mayo
Charles Horace Mayo (1865–1939) was an American surgeon who co-founded the Mayo Clinic in Rochester, Minnesota, with his brother William, becoming a leader in thyroid and head-and-neck surgery.
Charles J. Lockwood
Charles J. Lockwood is an American obstetrician-gynecologist who leads USF Health and is known for discovering fetal fibronectin, the first biochemical predictor of preterm birth.
Charles Johnson-Bey
Charles "CJ" Johnson-Bey is an American electrical engineer, a senior vice president at Booz Allen Hamilton elected to the National Academy of Engineering in 2024.
Charles K. Francis
Charles Kenneth Francis, Jr. (1939–2020) was an American cardiologist and National Academy of Medicine member known for thrombolysis research, studies of heart failure in elderly African-Americans, and presidency of the American College of Physicians.