Examination of the carrier state was performed in 744 unrelated mothers of the Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) probands with identified mutations in the dystrophin gene. Owing to that it was possible to assess frequency and type of new mutations in the gene. Contrary to the Japanese observations of Lee et al. published in this journal, we did not find significant differences in the carrier frequency between mothers of DMD and BMD patients. However, we found that new mutations in patients with deletions were significantly more frequent than in those with duplications and small mutations: of 564 unrelated patients with deletions, 236 (41.8%) carried new mutations, the respective values for duplications and small mutations were 21 of 95 patients (22.1%) and 18 of 85 patients (21.2%)-the differences highly significant (P<0.0001).

In the material of 227 families with Becker muscular dystrophy (BMD), we found nine non-consanguineous families with 17 male individuals carrying a rare mutation—a single exon 48 deletion of the dystrophin gene—who were affected with a very mild or subclinical form of BMD. They were usually detected thanks to accidental findings of elevated serum creatine phosphokinase (sCPK). A thorough clinical analysis of the carriers, both children (12) and adults (5), revealed in some of them muscle hypotonia (10/17) and/or very mild muscle weakness (9/17), as well as decreased tendon reflexes (6/17). Adults, apart from very mild muscle weakness and calf hypertrophy in some, had no significant abnormalities on neurological assessments and had good exercise tolerance. Parents of the children carriers of the exon 48 deletion are usually unaware of their children being affected, and possibly at risk of developing life-threatening cardiomyopathy. The same concerns the adult male carriers. Therefore, the authors postulate undertaking preventive measures such as cascade screening of the relatives of the probands. Newborn screening programmes of Duchenne muscular dystrophy (DMD)/BMD based on sCPK marked increase may be considered.

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Ethanethiol (C2H5SH) contains the −SH group, a functional group considered to be crucial for the prebiotic polymerization of amino acids. Ethanethiol is also one of about 250 molecules detected in the interstellar medium or circumstellar shells. We irradiated C2H5SH embedded in carbon monoxide (CO) as well as argon (Ar) ices. Using spectroscopy, we detected methane (CH4), ethane (C2H6), ethylene (C2H4), acetylene (C2H2), carbon monosulfide (CS), carbonyl sulfide (OCS), dihydrogen sulfide (SH2), thioformaldehyde (H2CS), ethanethial (CH3CHS), thiirane, ethenethione (H2CCS), ethynethiol (HCCSH), thiirene, ethenedithione (SCCS), methylene radical (CH2), ethylthiyl radical (C2H5S), thioketenyl radical (HCCS), sulfanyl radical (SH), and sulfur atoms. Additionally, we observed OCS luminescence during annealing of the Ar matrix sample, which indicates the existence of a free sulfur atom. All products contain fewer atoms than the parent. CH3CHS was the main organic product in CO; OCS is the only product detected that formed due to a reaction with CO. Quantum chemical computations show that the S–H bond can easily be broken upon electronic excitation. Although more experimental and theoretical data are needed, we suggest that C2H5SH can exist only in interstellar clouds shielded from UV radiation like G+0.693-0.027 but not in Orion KL.